chr10:123346190:A>G Detail (hg19) (FGFR2)

Information

Genome

Assembly Position
hg19 chr10:123,346,190-123,346,190
hg38 chr10:121,586,676-121,586,676 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001144919.1:c.109+7033T>C
NM_001144917.1:c.109+7033T>C
NM_000141.4:c.109+7033T>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.368
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 176943 OMIM
HGNC 3689 HGNC
Ensembl ENSG00000066468 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv40910738 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2024-01-29 criteria provided, single submitter FGFR2-related craniosynostosis germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.007 Sporadic Breast Carcinoma We here studied the association of rs1219648 in FGFR2 and rs1042522 in TP53 and ... BeFree 25292094 Detail
<0.001 Premenopausal breast cancer Association of rs1219648 in FGFR2 and rs1042522 in TP53 with premenopausal breas... BeFree 25292094 Detail
0.001 Premenopausal breast cancer Association of rs1219648 in FGFR2 and rs1042522 in TP53 with premenopausal breas... BeFree 25292094 Detail
0.001 Sporadic Breast Carcinoma We here studied the association of rs1219648 in FGFR2 and rs1042522 in TP53 and ... BeFree 25292094 Detail
0.230 Malignant neoplasm of breast Two single-nucleotide polymorphisms, rs13387042 (2q35) and rs1219648 (FGFR2 gene... BeFree 19789366 Detail
0.080 breast carcinoma FGFR2 rs1219648 and rs2981582 genotypes were significantly associated with breas... BeFree 19028704 Detail
0.006 breast carcinoma We focus on TNRC9 rs3803662, FGFR2 rs1219648 and rs2981582, MAP3K1 rs889312, and... BeFree 21475998 Detail
0.080 breast carcinoma In this study, we evaluated the associations among FGFR2 SNPs rs2981582, rs24209... BeFree 23225170 Detail
0.132 Malignant neoplasm of breast FGFR2 rs1219648 and rs2981582 genotypes were significantly associated with breas... BeFree 19028704 Detail
0.003 uterine corpus cancer We also observed a nonsignificant inverse association with rs889312 (MAP3K1) var... BeFree 18785201 Detail
0.080 breast carcinoma FGFR2 rs1219648 and rs2981582 genotypes were significantly associated with breas... BeFree 19028704 Detail
<0.001 Secondary malignant neoplasm of lymph node For FGFR2 SNP rs1219648, G-carriers (A/G+G/G genotype) were more significantly l... BeFree 20640597 Detail
0.003 Malignant neoplasm of endometrium We also observed a nonsignificant inverse association with rs889312 (MAP3K1) var... BeFree 18785201 Detail
0.230 Malignant neoplasm of breast A combined analysis of genome-wide association studies in breast cancer. GWASCAT 20872241 Detail
0.360 Malignant neoplasm of breast In this study, we evaluated the associations among FGFR2 SNPs rs2981582, rs24209... BeFree 23225170 Detail
0.031 breast carcinoma Risk of aggressive breast cancer in women of Han nationality carrying TGFB1 rs19... BeFree 20640597 Detail
<0.001 Malignant neoplasm of endometrium We also observed a nonsignificant inverse association with rs889312 (MAP3K1) var... BeFree 18785201 Detail
0.230 Malignant neoplasm of breast Breast cancer susceptibility associated with rs1219648 (fibroblast growth factor... BeFree 23435034 Detail
0.230 Malignant neoplasm of breast A genome-wide association study identifies alleles in FGFR2 associated with risk... GWASCAT 17529973 Detail
0.240 Malignant neoplasm of breast FGFR2 rs1219648 and rs2981582 genotypes were significantly associated with breas... BeFree 19028704 Detail
<0.001 Contralateral breast cancer Multiple SNPs in the FGFR2 locus were significantly associated with contralatera... BeFree 22087758 Detail
0.166 Malignant neoplasm of breast We focus on TNRC9 rs3803662, FGFR2 rs1219648 and rs2981582, MAP3K1 rs889312, and... BeFree 21475998 Detail
0.125 endometrial carcinoma We also observed a nonsignificant inverse association with rs889312 (MAP3K1) var... BeFree 18785201 Detail
0.230 Malignant neoplasm of breast Risk of aggressive breast cancer in women of Han nationality carrying TGFB1 rs19... BeFree 20640597 Detail
0.080 breast carcinoma FGFR2 rs1219648 and rs2981582 genotypes were significantly associated with breas... BeFree 19028704 Detail
0.031 breast carcinoma Two single-nucleotide polymorphisms, rs13387042 (2q35) and rs1219648 (FGFR2 gene... BeFree 19789366 Detail
0.019 breast carcinoma Risk of aggressive breast cancer in women of Han nationality carrying TGFB1 rs19... BeFree 20640597 Detail
0.240 Malignant neoplasm of breast FGFR2 rs1219648 and rs2981582 genotypes were significantly associated with breas... BeFree 19028704 Detail
<0.001 uterine corpus cancer We also observed a nonsignificant inverse association with rs889312 (MAP3K1) var... BeFree 18785201 Detail
0.090 Malignant neoplasm of breast Risk of aggressive breast cancer in women of Han nationality carrying TGFB1 rs19... BeFree 20640597 Detail
<0.001 endometrial carcinoma We also observed a nonsignificant inverse association with rs889312 (MAP3K1) var... BeFree 18785201 Detail
0.031 breast carcinoma Breast cancer susceptibility associated with rs1219648 (fibroblast growth factor... BeFree 23435034 Detail
0.121 Malignant neoplasm of breast Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall br... BeFree 23593120 Detail
0.002 breast carcinoma Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall br... BeFree 23593120 Detail
0.003 breast carcinoma Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall br... BeFree 23593120 Detail
<0.001 breast carcinoma Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall br... BeFree 23593120 Detail
0.031 breast carcinoma Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall br... BeFree 23593120 Detail
<0.001 Malignant neoplasm of breast Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall br... BeFree 23593120 Detail
0.230 Malignant neoplasm of breast Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall br... BeFree 23593120 Detail
0.138 Malignant neoplasm of breast Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall br... BeFree 23593120 Detail
0.122 Malignant neoplasm of breast Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall br... BeFree 23593120 Detail
<0.001 breast carcinoma Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall br... BeFree 23593120 Detail
0.009 breast carcinoma Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall br... BeFree 23593120 Detail
0.132 Malignant neoplasm of breast Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall br... BeFree 23593120 Detail
0.230 Malignant neoplasm of breast A variant mapping to 10q26.13, approximately 300 kb telomeric to the established... BeFree 21263130 Detail
0.031 breast carcinoma Five SNPs associated with breast cancer risk predominantly among ER-positive tum... BeFree 22965832 Detail
0.080 breast carcinoma Five SNPs associated with breast cancer risk predominantly among ER-positive tum... BeFree 22965832 Detail
0.240 Malignant neoplasm of breast Five SNPs associated with breast cancer risk predominantly among ER-positive tum... BeFree 22965832 Detail
0.230 Malignant neoplasm of breast Five SNPs associated with breast cancer risk predominantly among ER-positive tum... BeFree 22965832 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000141.5(FGFR2):c.109+7033T>C AND FGFR2-related craniosynostosis ClinVar Detail
We here studied the association of rs1219648 in FGFR2 and rs1042522 in TP53 and their interaction in... DisGeNET Detail
Association of rs1219648 in FGFR2 and rs1042522 in TP53 with premenopausal breast cancer in an Irani... DisGeNET Detail
Association of rs1219648 in FGFR2 and rs1042522 in TP53 with premenopausal breast cancer in an Irani... DisGeNET Detail
We here studied the association of rs1219648 in FGFR2 and rs1042522 in TP53 and their interaction in... DisGeNET Detail
Two single-nucleotide polymorphisms, rs13387042 (2q35) and rs1219648 (FGFR2 gene), were found to be ... DisGeNET Detail
FGFR2 rs1219648 and rs2981582 genotypes were significantly associated with breast cancer in EA only ... DisGeNET Detail
We focus on TNRC9 rs3803662, FGFR2 rs1219648 and rs2981582, MAP3K1 rs889312, and 2q35 rs13387042, to... DisGeNET Detail
In this study, we evaluated the associations among FGFR2 SNPs rs2981582, rs2420946, and rs1219648; a... DisGeNET Detail
FGFR2 rs1219648 and rs2981582 genotypes were significantly associated with breast cancer in EA only ... DisGeNET Detail
We also observed a nonsignificant inverse association with rs889312 (MAP3K1) variant carriers [OR = ... DisGeNET Detail
FGFR2 rs1219648 and rs2981582 genotypes were significantly associated with breast cancer in EA only ... DisGeNET Detail
For FGFR2 SNP rs1219648, G-carriers (A/G+G/G genotype) were more significantly linked to tumors with... DisGeNET Detail
We also observed a nonsignificant inverse association with rs889312 (MAP3K1) variant carriers [OR = ... DisGeNET Detail
A combined analysis of genome-wide association studies in breast cancer. DisGeNET Detail
In this study, we evaluated the associations among FGFR2 SNPs rs2981582, rs2420946, and rs1219648; a... DisGeNET Detail
Risk of aggressive breast cancer in women of Han nationality carrying TGFB1 rs1982073 C allele and F... DisGeNET Detail
We also observed a nonsignificant inverse association with rs889312 (MAP3K1) variant carriers [OR = ... DisGeNET Detail
Breast cancer susceptibility associated with rs1219648 (fibroblast growth factor receptor 2) and pos... DisGeNET Detail
A genome-wide association study identifies alleles in FGFR2 associated with risk of sporadic postmen... DisGeNET Detail
FGFR2 rs1219648 and rs2981582 genotypes were significantly associated with breast cancer in EA only ... DisGeNET Detail
Multiple SNPs in the FGFR2 locus were significantly associated with contralateral breast cancer, inc... DisGeNET Detail
We focus on TNRC9 rs3803662, FGFR2 rs1219648 and rs2981582, MAP3K1 rs889312, and 2q35 rs13387042, to... DisGeNET Detail
We also observed a nonsignificant inverse association with rs889312 (MAP3K1) variant carriers [OR = ... DisGeNET Detail
Risk of aggressive breast cancer in women of Han nationality carrying TGFB1 rs1982073 C allele and F... DisGeNET Detail
FGFR2 rs1219648 and rs2981582 genotypes were significantly associated with breast cancer in EA only ... DisGeNET Detail
Two single-nucleotide polymorphisms, rs13387042 (2q35) and rs1219648 (FGFR2 gene), were found to be ... DisGeNET Detail
Risk of aggressive breast cancer in women of Han nationality carrying TGFB1 rs1982073 C allele and F... DisGeNET Detail
FGFR2 rs1219648 and rs2981582 genotypes were significantly associated with breast cancer in EA only ... DisGeNET Detail
We also observed a nonsignificant inverse association with rs889312 (MAP3K1) variant carriers [OR = ... DisGeNET Detail
Risk of aggressive breast cancer in women of Han nationality carrying TGFB1 rs1982073 C allele and F... DisGeNET Detail
We also observed a nonsignificant inverse association with rs889312 (MAP3K1) variant carriers [OR = ... DisGeNET Detail
Breast cancer susceptibility associated with rs1219648 (fibroblast growth factor receptor 2) and pos... DisGeNET Detail
Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall breast cancer in the s... DisGeNET Detail
Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall breast cancer in the s... DisGeNET Detail
Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall breast cancer in the s... DisGeNET Detail
Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall breast cancer in the s... DisGeNET Detail
Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall breast cancer in the s... DisGeNET Detail
Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall breast cancer in the s... DisGeNET Detail
Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall breast cancer in the s... DisGeNET Detail
Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall breast cancer in the s... DisGeNET Detail
Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall breast cancer in the s... DisGeNET Detail
Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall breast cancer in the s... DisGeNET Detail
Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall breast cancer in the s... DisGeNET Detail
Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall breast cancer in the s... DisGeNET Detail
A variant mapping to 10q26.13, approximately 300 kb telomeric to the established risk locus within t... DisGeNET Detail
Five SNPs associated with breast cancer risk predominantly among ER-positive tumors (rs2981582/FGFR2... DisGeNET Detail
Five SNPs associated with breast cancer risk predominantly among ER-positive tumors (rs2981582/FGFR2... DisGeNET Detail
Five SNPs associated with breast cancer risk predominantly among ER-positive tumors (rs2981582/FGFR2... DisGeNET Detail
Five SNPs associated with breast cancer risk predominantly among ER-positive tumors (rs2981582/FGFR2... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs1219648 dbSNP
Genome
hg19
Position
chr10:123,346,190-123,346,190
Variant Type
snv
Reference Allele
A
Alternative Allele
G
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs1219648
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.3675
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
6160
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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